SAN DIEGO (CNS) - A research collaboration announced today between Rady Children's Institute for Genomic Medicine and Takeda Pharmaceutical Co. aims to accelerate the discovery and development of new treatments for rare childhood-onset diseases by analyzing the natural progression of selected genetic disorders.
Ultimately, the goal is to improve clinical outcomes for patients with rare diseases that typically manifest in childhood by providing precise
diagnoses and targeted treatments as early as possible to avoid morbidity or mortality.
RCIGM has pioneered rapid and ultra-rapid diagnoses of rare genetic disorders for critically ill newborns and children via whole genome sequencing.
In medically urgent cases, involving children in intensive care settings, preliminary results are returned in less than three days.
``The results of the first 2,000 children to receive rapid whole genome sequencing at the Genomics Institute has confirmed our understanding
that most childhood genetic diseases currently lack effective treatments,'' said Dr. Stephen Kingsmore, president and CEO of RCIGM. ``We are striving for a future where we can not only diagnose a child's rare disease but also provide disease-specific treatment.''
RCIGM is embedded within Rady Children's Hospital and Health Center, a pediatric health system which serves San Diego, southern Riverside and
Imperial counties, caring for more than 250,000 children annually. The Institute provides whole genome sequencing services and clinical decision
support to a network of more than 60 hospital systems nationwide.
``Rady Children's Institute for Genomic Medicine has led the way in using whole genome sequencing to better understand the genetic drivers of rare
diseases in children,'' said Dr. Dan Curran, head of rare genetics and the hematology therapeutic area unit at Takeda. ``It's through these efforts that
we hope to derive new insights on how childhood-onset diseases manifest, enabling us to more quickly develop transformative therapies for the families who desperately need them.''
Under the terms of the agreement, RCIGM will provide aggregated, de-identified genomic and phenotypic data derived from cases for specific disease cohorts. Takeda will oversee the drug discovery and development of potential targeted therapeutics resulting from the program. Additional terms were not disclosed.
``Rady Children's is excited to improve pediatric healthcare by joining Takeda in targeting therapeutics for rare disease,'' said Dr. Patrick
Frias, president and CEO of Rady Children's Hospital & Health Center. ``Our ability to care for children from birth through age 18 positions us to identify rare diseases early and track the natural history of childhood diseases with the goal of short-circuiting the therapeutic odyssey which now occurs in many children whose disease is not identified by current methods.''
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